Linked Data
dbSNP Id:
rs188626469
gnomAD v2:
5-132222170-T-C
gnomAD v3:
5-132886478-T-C
gnomAD v4:
5-132886478-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.132886478T>C , CM000667.2:g.132886478T>C | GRCh38 |
| NC_000005.9:g.132222170T>C , CM000667.1:g.132222170T>C | GRCh37 |
| NC_000005.8:g.132250069T>C | NCBI36 |
| NG_030340.1:g.82185A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000265343.10:c.3006-75A>G MANE Select | ENSP00000265343.5:n.3006-75A>G | |
| ENST00000265343.9:c.3006-75A>G | ENSP00000265343.5:n.3006-75A>G | |
| NM_014423.3:c.3006-75A>G | NP_055238.1:n.3006-75A>G | |
| XM_005271963.3:c.3006-75A>G | XP_005272020.1:n.3006-75A>G | |
| XM_005271964.3:c.1872-75A>G | XP_005272021.1:n.1872-75A>G | |
| XM_006714587.2:c.2919-75A>G | XP_006714650.1:n.2919-75A>G | |
| XM_005271963.5:c.3006-75A>G | XP_005272020.1:n.3006-75A>G | |
| XM_005271964.4:c.1872-75A>G | XP_005272021.1:n.1872-75A>G | |
| XM_006714587.4:c.2919-75A>G | XP_006714650.1:n.2919-75A>G | |
| NM_014423.4:c.3006-75A>G MANE Select | NP_055238.1:n.3006-75A>G |